Activity

Filter

Cancel
Date Panel Item Activity
4 actions
Ataxia - paediatric v0.64 TSFM Zornitza Stark Marked gene: TSFM as ready
Ataxia - paediatric v0.64 TSFM Zornitza Stark Gene: tsfm has been classified as Green List (High Evidence).
Ataxia - paediatric v0.64 TSFM Zornitza Stark reviewed gene: TSFM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 3, MIM# 610505; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.0 TSFM Bryony Thompson gene: TSFM was added
gene: TSFM was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,GeneReviews,Royal Melbourne Hospital
Mode of inheritance for gene: TSFM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSFM were set to Combined oxidative phosphorylation deficiency 3